Subscribe to Newsletter
Diagnostics Genetics and epigenetics, Technology and innovation

Melting Away the Mystery

Credit: Ötzi Museum Bozen by Andre, Schade / CC BY

In September 1991, two German tourists stumbled across a mummified corpse trapped in the ice of the Ötztal Alps. After extensive archaeological examination, it was discovered the body was around 5,300 years old. Nicknamed Ötzi the Iceman (and known more formally as the Tyrolean Iceman), the remains provided a unique insight into the Neolithic age and the hunter-gatherer lifestyle.

Although some mysteries remain, including the circumstances of his death and why there was an arrowhead lodged in his left shoulder (I sense a clue there), a great deal has been discovered – even down to his last meal (spoiler alert: he liked red deer and dried ibex meat). Ötzi’s genome was last sequenced over 10 years ago, but, as is well known in diagnostic circles, sequencing technology has come on leaps and bounds since 2012. And that’s why Albert Zink, a mummy researcher at Eurac Research in Bolzano, conducted a high-coverage analysis of Ötzi’s genome to reveal more about his genetic history and phenotypic traits (1).

“I’m often asked if, after 33 years of iceman research, shouldn’t everything be known?” said Zink in a Nature news article (2). “That’s not the case. I think there will always be new doors opening for research.” And boy was he right. Zink’s research found that Ötzi didn’t have Steppe-related ancestry as previously hypothesized, but instead had Anatolian-farmer ancestry. Markers were also found for type 2 diabetes and obesity-related metabolic syndrome. But perhaps the most discussed findings are the ones that have led the world to rethink Ötzi’s physical appearance. It is now thought his skin was much darker and, because he carried the allele for male pattern baldness, it is likely he had little hair when he died. “I was surprised,” ZInk said. “But when I thought about it, it explains much better why the mummy looks like it does”.

These welcome insights likely only scratch the surface of a complex life. Perhaps in another 10 years, we might know his entire life story…

Receive content, products, events as well as relevant industry updates from The Pathologist and its sponsors.
Stay up to date with our other newsletters and sponsors information, tailored specifically to the fields you are interested in

When you click “Subscribe” we will email you a link, which you must click to verify the email address above and activate your subscription. If you do not receive this email, please contact us at [email protected].
If you wish to unsubscribe, you can update your preferences at any point.

  1. K Wang et al., Cell Genom, 3 (2023). PMID: 37719142
  2. Nature (2023). Available at: https://go.nature.com/3tAtTOT
About the Author
Georgia Hulme

Associate Editor for the Pathologist

Related Application Notes
Evaluation of cell-free fetal DNA to determine fetal RhD status

| Contributed by Revvity

Preventing Bias in scRNAseq Performed on Solid Tumors

| Contributed by Revvity

Enabling Efficient, Cost-effective Sequencing of the Human Whole Exome

| Contributed by Revvity

Related Product Profile
Diagnostics Genetics and epigenetics
QIAseq® Pan Cancer Multimodal cuts user interventions by 50%

| Contributed by QIAGEN

Most Popular
Register to The Pathologist

Register to access our FREE online portfolio, request the magazine in print and manage your preferences.

You will benefit from:
  • Unlimited access to ALL articles
  • News, interviews & opinions from leading industry experts
  • Receive print (and PDF) copies of The Pathologist magazine

Register